Ontology highlight
ABSTRACT:
SUBMITTER: Nasca A
PROVIDER: S-EPMC5575512 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Human mutation 20170606 8
We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynami ...[more]